Atlas of Genetics and Cytogenetics in Oncology and Haematology


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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
Note: we send fiscal receipts for donations equal or above 50 Euros or Dollars

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BMPR1A (bone morphogenetic protein receptor, type IA)

Identity

Other names10q23del
ACVRLK3
ALK3
CD292
SKR5
HGNC (Hugo) BMPR1A
LocusID (NCBI) 657
Location 10q23.2
Location_base_pair Starts at 88516396 and ends at 88684945 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)BMPR1A   1076
Cards
Entrez_Gene (NCBI)BMPR1A  657  bone morphogenetic protein receptor, type IA
GeneCards (Weizmann)BMPR1A
Ensembl hg19 (Hinxton) [Gene_View]  chr10:88516396-88684945 [Contig_View]  BMPR1A [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr10:88516396-88684945 [Contig_View]  BMPR1A [Vega]
cBioPortalBMPR1A
AceView (NCBI)BMPR1A
Genatlas (Paris)BMPR1A
WikiGenes657
SOURCE (Princeton)BMPR1A
Genomic and cartography
GoldenPath hg19 (UCSC)BMPR1A  -     chr10:88516396-88684945 +  10q23.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BMPR1A  -     10q23.2   [Description]    (hg38-Dec_2013)
EnsemblBMPR1A - 10q23.2 [CytoView hg19]  BMPR1A - 10q23.2 [CytoView hg38]
Mapping of homologs : NCBIBMPR1A [Mapview hg19]  BMPR1A [Mapview hg38]
OMIM174900   601299   610069   
Gene and transcription
Genbank (Entrez)AB451405 AK291764 BC028383 BM819272 DQ786215
RefSeq transcript (Entrez)NM_004329
RefSeq genomic (Entrez)NC_000010 NC_018921 NG_009362 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)BMPR1A
Cluster EST : UnigeneHs.524477 [ NCBI ]
CGAP (NCI)Hs.524477
Alternative Splicing : Fast-db (Paris)GSHG0003523
Gene ExpressionBMPR1A [ NCBI-GEO ]     BMPR1A [ SEEK ]   BMPR1A [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP36894 (Uniprot)
NextProtP36894  [Medical]
With graphics : InterProP36894
Splice isoforms : SwissVarP36894 (Swissvar)
Catalytic activity : Enzyme2.7.11.30 [ Enzyme-Expasy ]   2.7.11.302.7.11.30 [ IntEnz-EBI ]   2.7.11.30 [ BRENDA ]   2.7.11.30 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)GS (PS51256)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Activin_rcpt    Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS    TGF_beta_rcpt_GS    TGFB_receptor   
Related proteins : CluSTrP36894
Domain families : Pfam (Sanger)Activin_recp (PF01064)    Pkinase (PF00069)    TGF_beta_GS (PF08515)   
Domain families : Pfam (NCBI)pfam01064    pfam00069    pfam08515   
Domain families : Smart (EMBL)GS (SM00467)  
DMDM Disease mutations657
Blocks (Seattle)P36894
PDB (SRS)1ES7    1REW    2GOO    2H62    2H64    2K3G    2QJ9    2QJA    2QJB    3NH7    3QB4   
PDB (PDBSum)1ES7    1REW    2GOO    2H62    2H64    2K3G    2QJ9    2QJA    2QJB    3NH7    3QB4   
PDB (IMB)1ES7    1REW    2GOO    2H62    2H64    2K3G    2QJ9    2QJA    2QJB    3NH7    3QB4   
PDB (RSDB)1ES7    1REW    2GOO    2H62    2H64    2K3G    2QJ9    2QJA    2QJB    3NH7    3QB4   
Peptide AtlasP36894
HPRD03192
IPIIPI00005731   IPI00979568   
Protein Interaction databases
DIP (DOE-UCLA)P36894
IntAct (EBI)P36894
BioGRIDBMPR1A
IntegromeDBBMPR1A
STRING (EMBL)BMPR1A
Ontologies - Pathways
QuickGOP36894
Ontology : AmiGOsequence-specific DNA binding RNA polymerase II transcription factor activity  in utero embryonic development  mesoderm formation  somitogenesis  Mullerian duct regression  positive regulation of mesenchymal cell proliferation  endocardial cushion formation  protein serine/threonine kinase activity  transmembrane receptor protein serine/threonine kinase activity  receptor signaling protein serine/threonine kinase activity  transforming growth factor beta-activated receptor activity  protein binding  ATP binding  plasma membrane  plasma membrane  caveola  transcription from RNA polymerase II promoter  protein phosphorylation  immune response  transforming growth factor beta receptor signaling pathway  ectoderm development  external side of plasma membrane  dorsal/ventral axis specification  positive regulation of pathway-restricted SMAD protein phosphorylation  neural crest cell development  integral component of membrane  stem cell maintenance  pituitary gland development  neural plate mediolateral regionalization  signal transduction by phosphorylation  lung development  dendrite  positive regulation of bone mineralization  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  hindlimb morphogenesis  odontogenesis of dentin-containing tooth  embryonic digit morphogenesis  protein homodimerization activity  neuronal cell body  positive regulation of osteoblast differentiation  positive regulation of transcription, DNA-templated  SMAD binding  metal ion binding  paraxial mesoderm structural organization  lateral mesoderm development  regulation of lateral mesodermal cell fate specification  mesendoderm development  embryonic organ development  developmental growth  positive regulation of epithelial cell proliferation  negative regulation of neurogenesis  cartilage development  palate development  positive regulation of SMAD protein import into nucleus  heart formation  regulation of cellular senescence  
Ontology : EGO-EBIsequence-specific DNA binding RNA polymerase II transcription factor activity  in utero embryonic development  mesoderm formation  somitogenesis  Mullerian duct regression  positive regulation of mesenchymal cell proliferation  endocardial cushion formation  protein serine/threonine kinase activity  transmembrane receptor protein serine/threonine kinase activity  receptor signaling protein serine/threonine kinase activity  transforming growth factor beta-activated receptor activity  protein binding  ATP binding  plasma membrane  plasma membrane  caveola  transcription from RNA polymerase II promoter  protein phosphorylation  immune response  transforming growth factor beta receptor signaling pathway  ectoderm development  external side of plasma membrane  dorsal/ventral axis specification  positive regulation of pathway-restricted SMAD protein phosphorylation  neural crest cell development  integral component of membrane  stem cell maintenance  pituitary gland development  neural plate mediolateral regionalization  signal transduction by phosphorylation  lung development  dendrite  positive regulation of bone mineralization  BMP signaling pathway  BMP signaling pathway  BMP signaling pathway  hindlimb morphogenesis  odontogenesis of dentin-containing tooth  embryonic digit morphogenesis  protein homodimerization activity  neuronal cell body  positive regulation of osteoblast differentiation  positive regulation of transcription, DNA-templated  SMAD binding  metal ion binding  paraxial mesoderm structural organization  lateral mesoderm development  regulation of lateral mesodermal cell fate specification  mesendoderm development  embryonic organ development  developmental growth  positive regulation of epithelial cell proliferation  negative regulation of neurogenesis  cartilage development  palate development  positive regulation of SMAD protein import into nucleus  heart formation  regulation of cellular senescence  
Pathways : BIOCARTAALK in cardiac myocytes [Genes]   
Pathways : KEGGCytokine-cytokine receptor interaction    TGF-beta signaling pathway    Hippo signaling pathway   
Protein Interaction DatabaseBMPR1A
DoCM (Curated mutations)BMPR1A
Wikipedia pathwaysBMPR1A
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerBMPR1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BMPR1A
dbVarBMPR1A
ClinVarBMPR1A
1000_GenomesBMPR1A 
Exome Variant ServerBMPR1A
SNP (GeneSNP Utah)BMPR1A
SNP : HGBaseBMPR1A
Genetic variants : HAPMAPBMPR1A
Genomic Variants (DGV)BMPR1A [DGVbeta]
Mutations
Cancer Gene: CensusBMPR1A 
Somatic Mutations in Cancer : COSMICBMPR1A 
CONAN: Copy Number AnalysisBMPR1A 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)10:88516396-88684945
Mutations and Diseases : HGMDBMPR1A
OMIM174900    601299    610069   
MedgenBMPR1A
NextProtP36894 [Medical]
GENETestsBMPR1A
Disease Genetic AssociationBMPR1A
Huge Navigator BMPR1A [HugePedia]  BMPR1A [HugeCancerGEM]
snp3D : Map Gene to Disease657
DGIdb (Drug Gene Interaction db)BMPR1A
General knowledge
Homologs : HomoloGeneBMPR1A
Homology/Alignments : Family Browser (UCSC)BMPR1A
Phylogenetic Trees/Animal Genes : TreeFamBMPR1A
Chemical/Protein Interactions : CTD657
Chemical/Pharm GKB GenePA25386
Clinical trialBMPR1A
Other databases
Probes
Litterature
PubMed129 Pubmed reference(s) in Entrez
CoreMineBMPR1A
GoPubMedBMPR1A
iHOPBMPR1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Mar 28 14:49:49 CET 2015

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.